Swiss Personalized Health Network

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Swiss Personalized Health Network

Report from the National Steering Board 2016 – 2019

A project of

www.swiss-academies.ch

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At the same time, a two-day Review Meeting was organized in September 2019, providing the International Advisory Board (IAB) of SPHN with the opportunity to hear about the achievements of SPHN-funded projects and works of the University Hospitals, but also about the challenges and hurdles encountered. On this basis, almost three years after its operational launch, the IAB provided a first in-depth review of the initiative as a whole, identifying the successes but also the gaps with a particular need for action.

During its meeting in September 2019, Urs Frey, chair of the National Steering Board (NSB), first presented the idea to elaborate a detailed progress report based on this overall mid-term review and feedback of the IAB. Following endorsement of the proposition by the NSB, a small Writing Group, composed of Prof. Urs Frey, Chair NSB; Dr. Adrien Lawrence, Managing Director SPHN; Dr. Katrin Crameri, Head of Personalized Health Informatics Group; Prof. Torsten Schwede, Chair National Advisory Board; Dr. Sabine Oesterle, Personalized Health Informatics Group and Dr. Liselotte Selter, SPHN Management Office, developed a first version of the «Swiss Personal- ized Health Report from the National Steering Board 2016 – 2019», which was submitted to the NSB for its meeting in February 2020 with an invitation to provide feedback. Following consolidation of the comments, a prefinalized version was submitted to and approved for publication by the NSB during its meeting in May 2020. Given that in the meantime the National Advisory Board (NAB) of SPHN (composed of experts in the infrastructural aspects of the initiative) was formed, members of the NAB were also given the opportunity to comment on the report.

The finalized version was shared with the NSB at its meeting on 17 September 2020 and processed for publication as a Swiss Academies Report.

The authors expect to develop a targeted publication (e.g., in a medical journal [FMH, SMW…]) based on this report to further increase the visibility of the initiative.

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Swiss Personalized Health Network (SPHN)

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Recommended form of citation

Swiss Personalized Health Network (2021)

Swiss Personalized Health Network. Report from the National Steering Board 2016 – 2019 Swiss Academies Reports 16 (1).

ISSN (print) 2297-8275 ISSN (online) 2297-184X

DOI: doi.org/10.5281/zenodo.4044123

SDGs: The international sustainability goals of the UNO With this publication, the Swiss Academy of Medical Sciences contributes to SDG 3: «Ensure healthy lives and promote well-being for all at all ages.»

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> English > The 2030 Agenda > 17 Sustainable Development Goals

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Foreword

With its high-quality healthcare network and excellence in research and innovation, Switzerland has the potential to become one of the European leaders in healthcare and biomedical science. Translating this potential into reality can bring the Swiss healthcare system to the next level, allowing data-driven precision medicine and fostering personalized health. This ambitious vision requires structural evolution in the data landscape. With the progress made in other leading nations in the world, these changes can no longer be considered as optional without hindering Switzerland’s competitiveness.

Given the tremendous amount of health data already available, healthcare and medical decisions should no longer be based solely on cohort averages, but take into account individual patient characteristics, including the variability in genes, molecular biomarkers, environment and lifestyle. To leverage the immense potential of data for better prevention, improved medical practice and ground-breaking innovative treatments, transdisciplinary scientific research, as well as specific infrastructural efforts are necessary: health data needs to be interoperable and broadly accessible for research. Addi- tionally, health-data research requires cutting-edge IT infrastructures fulfilling stringent data protection and information security requirements.

To this end, the Swiss Personalized Health Network (SPHN) initiative was launched in 2017, with the mission to collaboratively advance personalized health research and innovation by building upon – and supporting – existing data sources and infrastructures across the country. During the past three years, nationwide coordinated infrastructures have been set up in order to efficiently manage, exchange and process consented health data in accordance with ethical and legal requirements. In collaboration with the SIB Swiss Institute of Bioinfor- matics, the ETH Domain, the Universities and the Uni- versity Hospitals, SPHN allows the linkage of coded patient data with data deriving from the latest analytical platforms, e.g., in the field of genomics, metabolomics and proteomics. SPHN stringently coordinates its efforts with partner networks such as the Personalized Health and Related Technologies initiative of the ETH Domain (PHRT), the Swiss Biobanking Platform (SBP), the Swiss Clinical Trial Organisation (SCTO) and patient-citizen organizations.

This report gives an overview of the current status of the network development, highlights the conceptual changes introduced by SPHN and presents the results of a gap analysis and international review, carried out by SPHN in Summer 2019. The major challenges to come will be the real-world implementation of SPHN infrastructures, adoption of harmonized standards, processes and data-sharing principles. There is a need for collaborative efforts, open discussions and involvement of multiple stakeholders, including patient and citizen representatives. Although representatives of patient organizations have been involved in the SPHN ELSI advisory group and in the National Steering Board since the beginning of the initiative, their voice needs to be strengthened. In- deed, public trust, understanding the risks and benefits, and consequently willingness to share data to progress science and healthcare in Switzerland are important prerequisites for the success of the initiative.

Prof. Urs Frey

Chairperson, SPHN National Steering Board

Keywords

#HealthDataManagement, #PrecisionMedicine,

#PersonalizedHealth, #HealthResearchInfrastructure,

#SPHN, #DataDrivenMedicine, #GeneralConsent,

#BroadConsent, #PatientInvolvement

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Executive Summary – English

Personalized medicine is a research trend in patient-oriented research which has been evolving for nearly two decades and is likely to continue transforming our future healthcare. With its high-quality healthcare network and excellence in research and innovation, Switzerland has the potential to become one of the European leaders in health and biomedical science. In order to make this vision a reality and remain internationally competitive, the build-up of a sustainable, personalized medicine ecosystem in Switzerland is a prerequisite and requires a joint venture between citizens, researchers, healthcare providers, authorities and cooperation partners.

The Swiss Personalized Health Network (SPHN) initiative was launched in 2017 by the Swiss Federal Government (State Secretariat for Education, Research and Innovation [SERI] and the Federal Office of Public Health [FOPH]) as a first step to facilitating research in such a future ecosystem. The Swiss Academy of Medical Sciences (SAMS), in collaboration with the SIB Swiss Institute of Bioinformat- ics, is responsible for the implementation of the mandate, which has been allocated a total of CHF 68 Mio for the period 2017 – 2020. A second funding period of the initiative is ensured for 2021 – 2024, following which the developed research infrastructures should be self-sustainable.

It is the mission of SPHN to collaboratively advance personalized health research and innovation by building upon – and supporting – existing data sources and infrastructures across the country. For the first funding period, 2017 – 2020, the focus lied on the development of a nationally coordinated research data infrastructure, including interoperability of local and regional information systems.

In order to optimize and leverage the use of primarily clinical but also other health-related data for personalized health research, both transdisciplinary scientific research as well as specific infrastructural efforts are necessary: we need to create infrastructures allowing rapid and broad access to consented and ethically approved, fit-for-purpose, interoperable and standardized healthcare data, which can be linked to cutting-edge IT infrastructures, research platforms and biobanks fulfilling stringent data protection and information security requirements.

While the first infrastructures are – at least in the first SPHN phase – primarily developed in the Swiss Univer- sity Hospitals, the latter infrastructures are heavily developed by our partner organizations ETH with its Personal-

ized Health and Related Technologies (PHRT) initiative, the SNSF-funded Swiss Biobanking Platform (SBP), the universities, the hospitals and many other health-related research partners. By facilitating the dialogue between these relevant stakeholders, we aim to establish a reputation as a trusted research partner network.

In order to streamline and harmonize at least parts of this development and to make health data from Uni- versity Hospitals sharable and effectively usable for research, a mixed top-down and bottom-up approach was chosen. On the one hand, Collaboration Agreements (In- frastructure implementation projects) between SPHN and each Swiss University Hospital were signed, with the aim of developing systems that allow interoperable data exchange at all five institutions. On the other hand, SPHN launched two calls for proposals in 2017 and 2018 to fund two types of projects: “Infrastructure Develop- ment Projects”, aiming to develop and test new technologies, methods and infrastructures and “Driver Projects”, guiding the development of SPHN by test-driving the infrastructures and interoperability for multi-site research in a specific area or pathology.

The SPHN Data Coordination Center (DCC) operated by the Personalized Health Informatics Group of the SIB Swiss Institute of Bioinformatics is key to reaching the interoperability goals of the initiative. Its mandate is to promote the development and implementation of nationwide standards for data semantics and exchange mechanisms and therefore it closely collaborates with its various technical expert working groups. In addition, the DCC coordinates the implementation of the key milestones of the collaboration agreements as well as the BioMedIT network. The latter was funded by the Swiss Federal Government for the period 2017 – 2020 as part of the Swiss Roadmap for Research Infrastructures within the framework of SPHN and PHRT and has been specifically designed for collaborative research projects on sensitive data that are brought together from different data sources and analysed by multidisciplinary research teams from different institutions.

This report gives an overview of the current status of the network development, highlights the conceptual changes introduced by SPHN and presents the results of a gap analysis and international review, carried out by SPHN during the year 2019. It further provides an outlook into the funding period 2021 – 2024 and critically reflects the progress of the initiative as well as the problems identified.

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During the past three years, not only have SPHN’s governance, working principles and frameworks been defined, but also nationwide coordinated infrastructures have been built up in order to efficiently manage, exchange and process consented health data in accordance with ethical and legal requirements. The funding period 2017 – 2020 was further instrumental for stakeholder alignment, process innovation, definition and harmonization of standards and interoperability. The biggest achievement of this period however, is probably the in- creasing awareness of the systemic gaps and problems of big-data health science in Switzerland, which were revealed by the SPHN Driver Projects.

These problems are mainly related to the complexity of data influencing health as well as the heterogenei- ty of the Swiss health system with its local legal, ethical and regulatory frameworks. Interoperability, and thus big-data health science, is critically dependent on nationwide harmonization of these regulatory frameworks. The need for alignment and coordination of the efforts has become imminent for all stakeholders and their willingness to agree and implement common strategies, standards and guidelines will be a prerequisite for the initiative’s success and possibly require a discussion at the political level.

In view of the next funding period 2021 – 2024, using the acquired knowledge of this Gap Analysis, the major challenges to come will be the real-world implementation and consolidation of SPHN infrastructures, as well as the adoption of harmonized standards, processes and data-sharing principles. In order to ensure sustainability and scalability of the nationally coordinated health-data research infrastructures built up by SPHN and its partners, stringent and coordinated implementation strategies and public dialogue will be key efforts.

There is, however, much to win: a data-driven landscape is a transformation instrument that has the potential to evolve a traditional healthcare system towards a learning, efficient, qualitative and personalized care system.

This transformation of the core functioning of the care system will be of benefit for all stakeholders – primarily citizens, but also governing bodies, public health organizations and the research community.

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Executive Summary – Deutsch

Personalisierte Medizin hat sich in den letzten zwei Jahr- zenten als eine Entwicklung in der patientenorientierten Forschung etabliert, die mit grosser Wahrscheinlichkeit auch in Zukunft unsere Gesundheitsversorgung verän- dern wird. Die Schweiz hat dank ihrer exzellenten For- schung, Innovationskraft und ihrem qualitativ hoch- stehenden Gesundheitssystem gute Chancen, zu den führenden europäischen Ländern im Bereich biomedizi- nische Forschung und Gesundheitsforschung zu zählen.

Diese Vision zu verwirklichen und international wettbe- werbsfähig zu bleiben, setzt den Aufbau eines nachhalti- gen Ökosystems in personalisierter Medizin voraus – und zwar als Gemeinschaftsprojekt zwischen Bürger/-innen, Forschenden, Gesundheitsdienstleistern, Behörden und Kooperationspartnern.

Die Swiss Personalized Health Network (SPHN) Initia- tive wurde 2017 im Auftrag des Bundes lanciert (Staats- sekretariat für Bildung, Forschung und Innovation und Bundesamt für Gesundheit), um in einem ersten Schritt die Forschung in einem solchen Ökosystem zu unterstüt- zen. Die Schweizerische Akademie der Medizinischen Wissenschaften (SAMW) ist, in Zusammenarbeit mit dem Schweizerischen Institut für Bioinformatik SIB, für die Umsetzung verantwortlich. Insgesamt 68 Mio. Fran- ken wurden für den Zeitraum 2017 – 2020 bereitgestellt, eine zweite Förderperiode ist für die Jahre 2021 – 2024 gesichert. Danach sollen die entwickelten Forschungsin- frastrukturen selbsttragend sein.

Das gemeinsame Vorantreiben von Forschung und Inno- vation im Bereich personalisierte Gesundheit, basierend auf bereits bestehenden, nationalen Datenquellen und Infrastrukturen und deren Weiterentwicklung, stellt den Kern des SPHN-Auftrags dar. Fokus der ersten För- derperiode 2017 – 2020 war die Entwicklung einer national koordinierten Forschungsdateninfrastruktur, ein- schliesslich der Interoperabilität lokaler und regionaler Informationssysteme.

Um die Nutzung von klinischen, aber auch anderen ge- sundheitsrelevanten Daten für die personalisierte Gesund- heitsforschung zu optimieren, sind sowohl transdiszipli- näre wissenschaftliche Forschung als auch spezifische infrastrukturelle Anstrengungen notwendig. Es müssen Plattformen geschaffen werden, die einen schnellen und breiten Zugang zu standardisierten, interoperablen und zweckmässigen Gesundheitsdaten ermöglichen, für deren Nutzung zu Forschungszwecken die Einwilligung der Betroffenen sowie der verantwortlichen Ethikkommis- sionen vorliegen. Diese Infrastrukturen müssen ausser-

dem mit Hochleistungs-Rechenzentren, Forschungsplatt- formen und Biobanken verknüpft werden können, die den hohen Anforderungen an Datenschutz und Informations- sicherheit genügen.

Während der ersten Finanzierungsperiode des SPHN haben die Schweizer Universitätsspitäler bei der Ent- wicklung dieser Infrastrukturen eine zentrale Rolle gespielt. Die Partnerorganisationen des SPHN, etwa die Initiative «Personalized Health and Related Techno- logies (PHRT)» des ETH-Bereichs, die vom Schweizer Nationalfonds finanzierte Swiss Biobanking Platform (SBP), die Universitäten, Spitäler und viele andere ge- sundheitsbezogene Forschungspartner treiben dagegen die Entwicklung moderner Rechenzentren, Forschungs- plattformen und Biobanken voran. Indem der Dialog zwischen diesen relevanten Akteuren gefördert und er- leichtert wird, will sich SPHN einen Ruf als vertrauens- würdiges Forschungspartnernetzwerk aufbauen.

Um diese Entwicklung zu koordinieren und Gesund- heitsdaten von Universitätsspitälern austauschbar und effektiv für die Forschung nutzbar zu machen, hat SPHN sowohl einen Top-Down- als auch Bottom-Up-Ansatz ge- wählt. Einerseits wurden Leistungsvereinbarungen (In- frastruktur-Implementierungsprojekte) zwischen SPHN und den fünf Schweizer Universitätsspitälern unter- zeichnet, um Systeme zu entwickeln, die einen interoperablen Datenaustausch zwischen den Institutionen er- möglichen. Andererseits lancierte SPHN in den Jahren 2017 und 2018 Ausschreibungen zur Finanzierung von zwei Projektentypen: Die Infrastructure Development Projects haben zum Ziel, neue Technologien, Methoden und Infrastrukturen für Forschung im Bereich personalisierter Gesundheit zu entwickeln und zu testen. Die Driver Projects sind in einem konkreten Forschungsge- biet oder einer Pathologie angesiedelt. Sie sollen die Ent- wicklung von klinischen Datenmanagementsystemen in mehreren Universitätsspitälern vorantreiben, indem Da- teninteroperabilität und Grundsätze der gemeinsamen Datennutzung im gesamten Netzwerk getestet werden.

Das von der Personalized Health Informatics Group des SIB betreute Data Coordination Center (DCC) ist für das Erreichen der Interoperabilitätsziele innerhalb SPHN zentral. Es hat den Auftrag, die Entwicklung und Um- setzung von landesweiten Standards für Datensemantik und Austauschmechanismen zu fördern. Für die ihm zugewiesenen Aufgaben arbeitet es eng mit verschiedenen technischen Expertenarbeitsgruppen zusammen.

Darüber hinaus koordiniert das DCC die Umsetzung

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der in den Leistungsvereinbarungen mit den Univer- sitätsspitälern definierten Meilensteine und das Bio- MedIT-Netzwerk. Letzteres wurde vom Bund für den Zeitraum 2017 – 2020 als Teil der Schweizer Roadmap für Forschungsinfrastrukturen und integraler Teil der SPHN- und PHRT-Initiativen finanziert. Das BioMe- dIT-Netzwerk ist speziell für Forschungsprojekte mit sensiblen Daten konzipiert, die aus unterschiedlichen Datenquellen zusammengeführt und von multidiszip- linären Forschungsteams aus verschiedenen Institutio- nen analysiert werden.

Dieser Bericht gibt einen Überblick über den Stand der Netzwerksentwicklung. Insbesondere beleuchtet er die durch SPHN geschaffenen konzeptionellen Verände- rungen und präsentiert die Ergebnisse der 2019 durch- geführten Gap-Analyse und Begutachtung durch das internationale SPHN-Expertengremium. Der Bericht liefert ausserdem einen Ausblick auf die Förderperiode 2021 – 2024 und reflektiert kritisch die Fortschritte und die identifizierten Hürden und Herausforderungen.

In den drei Jahren operativer Tätigkeit wurden nicht nur die Governance, die Arbeitsprinzipien und Rahmen- bedingungen von SPHN definiert, sondern auch landes- weit koordinierte Infrastrukturen aufgebaut. Dies, um Gesundheitsdaten mit vorliegender Einwilligung zu For- schungszwecken im Einklang mit ethischen und rechtlichen Anforderungen effizient zu verwalten, auszutau- schen und zu verarbeiten. Die Förderperiode 2017 – 2020 war ausserdem entscheidend für die Angleichung der diversen Interessengruppen hinsichtlich Prozessinnova- tion, Definition und Harmonisierung von Standards und Interoperabilität. Die wohl grösste Errungenschaft dieser ersten Phase besteht jedoch darin, dass die systemischen Lücken und Herausforderungen der Big-Data-Gesund- heitsforschung in der Schweiz durch die Driver Projects zum Vorschein gebracht wurden und dies zu einer zu- nehmenden Sensibilisierung und einem gemeinsamen Bewusstsein der Netzwerkpartner geführt hat.

Die Herausforderungen und bestehenden Lücken hän- gen einerseits damit zusammen, dass Daten, die unsere Gesundheit beeinflussen, sehr komplex sind. Anderer- seits, dass das heterogene Schweizer Gesundheitssystem mit seinen lokalen rechtlichen, ethischen und regula- torischen Rahmenbedingungen signifikante Hürden für die Gesundheitsforschung mit grossen Datenmengen darstellt. Eine landesweite Harmonisierung der rechtlichen Rahmenbedingungen ist für die Interoperabili- tät und somit den Erfolg von Big-Data-Gesundheitsfor-

schung entscheidend. Den Beteiligten ist die dringende Notwendigkeit einer besseren und effizienteren Koordi- nation der vielfältigen, bereits bestehenden Bemühun- gen in diesem Gebiet bewusst. Die Bereitschaft aller Beteiligten, Vereinbarungen hinsichtlich gemeinsamer Strategien, Standards und Richtlinien sowie deren Um- setzung zu treffen, ist eine grundlegende Voraussetzung für den Erfolg der Initiative. Möglicherweise ist hierzu auch eine Diskussion auf politischer Ebene erforderlich.

Basierend auf den Erkenntnissen der Gap-Analyse und im Hinblick auf die nächste Förderperiode 2021 – 2024 sind die grössten Herausforderungen erstens in der re- alen Umsetzung und Konsolidierung der SPHN-Infra- strukturen und zweitens in der Annahme harmonisierter Standards, Prozesse und Prinzipien für den Datenaus- tausch zu erwarten. Um die Nachhaltigkeit und Skalier- barkeit der von SPHN und seinen Partnern aufgebauten, national koordinierten Gesundheitsdaten-Forschungs- infrastrukturen zu gewährleisten, werden stringente und abgestimmte Implementierungsstrategien und der öffentliche Dialog im Mittelpunkt stehen. Der mögliche Gewinn ist gross: Eine datengetriebene Gesundheits- forschung hat das Potenzial, ein traditionelles Gesund- heitssystem in ein qualitatives, effizientes, lernendes und personalisiertes Versorgungssystem zu transfor- mieren. Eine solche Transformation der Kernfunktionen des Versorgungssystems ist für alle Interessengruppen von Nutzen – in erster Linie für Bürgerinnen und Bürger bzw. Patientinnen und Patienten, aber auch für Verwal- tungsorgane, die Organisationen des öffentlichen Ge- sundheitswesens und die Forschungsgemeinschaft.

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Executive Summary – Français

La médecine personnalisée s’est établie au cours des deux dernières décennies comme une évolution dans la recherche orientée vers le patient qui modifiera très probablement la prise en charge médicale du futur. Grâce à son excellente recherche, sa force d’innovation et la qualité de son système de santé, la Suisse a de grandes chances de compter parmi les leaders européens dans le domaine de la recherche biomédicale et de la recherche en santé. Pour concrétiser cette vision et rester compéti- tif sur le plan international, il est nécessaire de dévelop- per un écosystème durable dans le domaine de la méde- cine personnalisée – sous la forme d’un projet commun porté par la population, la communauté scientifique, les prestataires de soins, les autorités et les institutions partenaires.

L’initiative Swiss Personalized Health Network (SPHN) a été lancée en 2017 à la demande de la Confédération (Secrétariat d’État à la formation, à la recherche et à l’innovation et Office fédéral de la santé publique), afin de soutenir dans une première étape la recherche dans un tel écosystème. L’Académie Suisse des Sciences Médi- cales (ASSM) est responsable de la mise en œuvre du projet en collaboration avec le SIB Institut suisse de bioinformatique. Un montant total de 68 millions a été mis à disposition pour la période de 2017 à 2020 ; une deuxième période de financement est assurée pour les années 2021 à 2024. Par la suite, les infrastructures de recherche ainsi développées devront être financière- ment autonomes.

La promotion de la recherche et de l’innovation dans le domaine de la santé personnalisée, basée sur les sources de données et les infrastructures nationales existantes et leur développement ultérieur, est au cœur de la mission du SPHN. La première période de financement 2017 – 2020 a été consacrée au développement d’une infrastructure de données de recherche coordonnée au niveau national, incluant l’interopérabilité des systèmes d’information locaux et régionaux.

Afin d’optimiser l’exploitation des données cliniques, mais également d’autres données de santé pertinentes pour la recherche en santé personnalisée, il faut à la fois une recherche scientifique transdisciplinaire et des efforts infrastructurels spécifiques. Des plateformes permettant un accès rapide et élargi à des données de santé standardisées, interopérables et adéquates doivent être créées; l’utilisation de ces données à des fins de recherche requiert le consentement des personnes concer- nées et des commissions d’éthique responsables. Ces

infrastructures doivent, par ailleurs, être reliées à des centres de données de haute performance, des plateformes de recherche et des biobanques qui répondent aux exigences élevées de la protection des données et de la sécurité de l’information.

Pendant la première période de financement du SPHN, les hôpitaux universitaires suisses ont joué un rôle central dans le développement de ces infrastructures.

De leur côté, les organisations partenaires du SPHN, comme l’initiative « Personalized Health and Related Technologies (PHRT) » du domaine des EPF, la Swiss Biobanking Platform (SBP) financée par le Fonds Natio- nal Suisse, les universités, les hôpitaux et de nombreux autres partenaires de recherche dans le domaine de la santé favorisent le développement de centres informa- tiques, de plateformes de recherche et de biobanques mo- dernes. En encourageant et en facilitant le dialogue entre ces acteurs essentiels, le SPHN souhaite se forger une réputation de catalysateur de confiance pour la mise en réseau des partenaires de recherche.

Afin de coordonner ce développement et de rendre les données de santé des hôpitaux universitaires échan- geables et utilisables pour la recherche, le SPHN a choi- si une approche à la fois « top-down » et « bottom-up ».

D’une part, des accords de prestations (projet d’implé- mentation d’infrastructures) entre le SPHN et les cinq hôpitaux universitaires suisse ont été signés, pour déve- lopper des systèmes permettant un échange de données interopérables entre les différentes institutions. D’autre part, le SPHN a lancé en 2017 et 2018 des mises au concours pour le financement de deux types de projets : les « Infrastructure Development Projects » et les « Driver projects ». Les premiers sont destinés au développement et à l’évaluation des nouvelles technologies, méthodes et infrastructures pour la recherche en médecine per- sonnalisée. Les seconds portent sur une pathologie ou un domaine de recherche concret, dont l’objectif est de faire progresser le développement de systèmes de ges- tion de données cliniques dans plusieurs hôpitaux universitaires en testant l’interopérabilité et les principes de l’utilisation conjointe des données dans l’ensemble du réseau.

Le Data Coordination Center (DCC) géré par le Perso- nalized Health Informatics Group du SIB est essentiel pour atteindre les objectifs d’interopérabilité au sein du SPHN. Sa mission est de promouvoir le développement et la mise en œuvre de standards nationaux pour la séman- tique des données et les mécanismes d’échanges. Pour

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ce faire, il travaille en collaboration étroite avec diffé- rents groupes d’experts techniques. Par ailleurs, le DCC coordonne la mise en œuvre des jalons définis dans les accords de prestations avec les hôpitaux universitaires et le réseau BioMedIT. Ce dernier a été financé par la Confédération pour la période 2017 – 2020 dans le cadre de la feuille de route suisse pour les infrastructures de recherche et fait partie intégrante des initiatives SPHN et PHRT. Le réseau BioMedIT a été conçu spécialement pour les projets de recherche contenant des données sen- sibles, provenant de diverses sources qui sont analysées par des équipes de recherche multidisciplinaires de dif- férentes institutions.

Le rapport donne un aperçu de l’état actuel du dévelop- pement du réseau. Il expose notamment les changements conceptuels introduits par le SPHN et présente les résul- tats de l’analyse des lacunes (« gap analysis ») réalisée en 2019 et l’évaluation par le comité international d’experts du SPHN. Le rapport donne, par ailleurs, un aperçu de la période de financement 2021 – 2024 et se livre à une réflexion critique sur les progrès réalisés et les obstacles et défis identifiés.

Ces trois ans d’activité opérationnelle ont permis non seulement de définir la gouvernance, les principes de travail et les conditions cadres du SPHN, mais également de mettre en place des infrastructures nationales coor- données. Ceci avec l’objectif de gérer, d’échanger et de traiter efficacement les données de santé mises à disposition à des fins de recherche avec le consentement préa- lable du patient et en accord avec les exigences éthiques et juridiques. La période de financement 2017 – 2020 a, par ailleurs, été décisive pour concilier les groupes d’in- térêt divergents en termes d’innovation de processus, de définition et d’harmonisation des normes et de l’intero- pérabilité. Cependant, la réalisation la plus importante de cette première phase a probablement été de mettre en évidence, grâce aux Driver Projects, les lacunes et les enjeux systémiques de la recherche en santé fondée sur les Big Data en Suisse et, ainsi, d’accroître la sensibilisa- tion et de promouvoir une prise de conscience commune parmi les partenaires du réseau.

Les défis et les lacunes existantes sont attribués, d’une part, au fait que les données qui influencent notre san- té sont très complexes, et, d’autre part, au système de santé suisse très hétérogène avec ses conditions cadres juridiques, éthiques et réglementaires locales qui sont des obstacles significatifs pour la recherche sur la san- té avec de grandes quantités de données. Une harmo-

nisation nationale des conditions cadres juridiques est indispensable à l’interopérabilité et donc au succès de la recherche en santé basée sur les Big Data. Les partenaires concernés sont conscients de la nécessité impé- rieuse d’une coordination plus efficace des efforts entre- pris dans ce domaine. La volonté de tous les participants de conclure des accords concernant des stratégies com- munes, des normes et des directives ainsi que leur mise en œuvre, est une condition préalable fondamentale au succès de l’initiative. Un débat au niveau politique peut s’avérer nécessaire à cet égard.

Basé sur les résultats de la « gap analysis » et dans l’op- tique de la prochaine période de financement 2021 – 2024, les principaux défis résident premièrement dans la mise en œuvre effective et dans la consolidation des infrastructures du SPHN et deuxièmement dans l’adoption de standards, de processus et de principes harmonisés pour l’échange des données. Le SPHN et ses partenaires ont développé des infrastructures de recherche sur les données de santé coordonnées au niveau national; afin d’assurer leur durabilité et leur évolutivité, l’élaboration de stratégies d’implémentation rigoureuses et définies en concertation ainsi qu’un dialogue avec le public se- ront essentiels. Le bénéfice possible est énorme : la recherche en santé fondée sur les données a le potentiel de transformer le système de santé traditionnel en un système de santé de qualité, efficace, capable d’améliora- tions et personnalisé. Une telle transformation des fonc- tions clés du système de santé est au bénéfice de tous les groupes d’intérêt – en premier lieu des citoyennes et citoyens respectivement des patientes et des patients, mais également des organes administratifs, des organisations du système de santé public et de la communauté scientifique.

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1. Introduction

Personalized health is a research trend in patient-oriented research, which has been evolving for nearly two decades, and will likely dominate the healthcare of this century, including significant changes in healthcare, biomedical- research infrastructures and health economy. It is based on the concept of precision medicine and the notion that in many diseases, a more accurate phenotyping of the patient including biomarkers such as environmental, clinical, physiological, genetic, metabolic or protein profiles can result in better and often more specific patient treatment or risk and outcome prediction. This has become obvious in the field of monogenetic diseases, where the identification of specific genes or metabolic pathways can allow specific treatments even in individual patients (Figure 1). While these situations are still rare, there is in- creasing evidence in a variety of chronic diseases (such as asthma, diabetes and cancer), where subgroups or sub- phenotypes can profit from specific treatments. This strat- ifying approach can not only have a significant impact on the healthcare of the individual patient, but also on the health economic aspects of the healthcare system.

However, research in this specific field requires certain conditions, which are often not available in the current healthcare system and research landscape. These are:

– Availability of standardized, analytical methods;

– Patient data, which allow accurate and standardized clinical phenotyping;

– Standardized assessment of such clinical and analytical data not only in individual institutions but in national and even international research networks;

– Processes allowing the aggregation of large data sets of patient and citizen health data;

– Interoperability of data, standardized semantics, bioinformatics for big-data-analysis, quality standards;

– Established standard operating procedures and process innovations, regulatory framework facilitating scientific research;

– Legally and ethically compliant and technically se- cured data sampling, acquisition, transport, storage and treatment, including mechanisms for patient consent and data protection (appropriate security measures, codes of conduct, researcher accountability);

– Public trust, understanding of risks and benefits of data- driven medicine and of a learning healthcare system approach;

– Improved communication and understanding between citizens, patients, clinicians, clinical and fundamental researchers, politicians, legal and regulatory authorities, as well as economy:

– A concept that specifies the terms of the patient involvement (e.g., general consent);

– Valid research concepts with stringent verification of big-data-generated hypotheses by other research methods such as randomized controlled trials or mechanis- tic and analytical basic science methods.

<

One size fits all medicine Stratified medicine Personalized medicine,

Precision medicine

Personalization Stratification

Patients are grouped by disease, subtypes, demographics, environmental, behavioral or clinical features, biomarkers and multi-omics profiles

Individual patients are characterised by preferences, clinical features, medical history, environment, behavioural profiles, biomarkers and multi- omics profiles

Figure 1: Concept of Precision Medicine.

Source: UKBB, Urs Frey, May 2017.

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Similar to many other countries, the availability of large amounts of standardized, health-related, real-world patient and citizen data is still poor in Switzerland. Despite its limited population size, Switzerland can be competitive in the international scientific scene in the field of data-driven medicine due to the quality and the density of the data production in the overall care system. How- ever, this requires the coordination of efforts and design overarching research and healthcare infrastructures. We need to create infrastructures allowing rapidly accessible, consented and ethically approved, fit-for-purpose, interoperable and standardized healthcare data, which can be linked to the available analytical research platforms and biobanks. The latter are heavily developed by our partner organizations ETH with its Personalized Health and Related Technologies (PHRT) initiative, and the SNSF-funded Swiss Biobanking Platform (SBP), the universities, the hospitals and many other health-related research partners (section 4). Together, we aim to establish a reputation as a trusted research partner network.

Personalized medicine will likely transform healthcare in the next decades. Switzerland needs to build a sustainable, personalized medicine ecosystem that delivers a joint venture between citizens, researchers, healthcare providers, authorities and cooperate partners. Dialogue between the relevant stakeholders will be a key instrument for achieving this. SPHN is the first step to facilitating research in this ecosystem.

In order to build up such research infrastructures, the Swiss Federal Government (State Secretariat for Edu- cation, Research and Innovation [SERI] and the Federal Office of Public Health [FOPH]) has mandated the Swiss Academy of Medical Sciences (SAMS) and the SIB Swiss Institute of Bioinformatics to build the federal Swiss Personalized Health Network (SPHN) (1). The SAMS and SIB are responsible for the implementation of the mandate, which has been allocated a total of CHF 68 M for the period 2017 – 2020. A follow-up funding period of the initiative is planned for 2021– 2024. After this, the research infrastructures should be self-sustainable.

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2. Vision and Mission

With its high-quality healthcare network and excellence in technologies at Universities and ETH Domain Institu- tions, Switzerland has the potential to become one of the European leaders in health and biomedical science. This enables Switzerland to attract additional national and international funding opportunities and partnerships as well as highly-skilled personnel. To remain internationally competitive and reach this ambitious vision, structural changes in research infrastructural support and changes in data-sharing policies need to be accom- plished in the very near future.

As defined in the mandate, the long-term goal of the SPHN initiative is to establish a Swiss network in personalized medicine, in which all relevant research institutions in this field are involved based on the principles of economy of scale. This implies a stringent coordination of the involved stakeholders and partners. In the period 2017 – 2020, the central focus is the development of a nationally coordinated research data infrastructure, including interoperability of local and regional information systems in order to optimize the use of primarily clinical but also other health-related data for research in the field of personalized medicine (Figure 2).

A nationally coordinated health-data infrastructure including patient- and citizen-related outcome measures will enable a data-driven precision medicine landscape in Switzerland, leveraging research, industry and care.

A data-driven landscape is a transformation instrument that evolves the traditional healthcare system towards a learning, efficient, qualitative and personalized care

system. This transformation of the core functioning of the care system will benefit all stakeholders, including governing bodies, public health organizations, the research community and primarily citizens.

We envision a mind shift not only in the medical and scientific community but also in the Swiss public, and a better understanding of risk and benefits of data-driven medicine. We envision the community sharing data in the interest of a better research and clinical-care ecosystem, ultimately in the interest of the patient. We want to achieve this by visualizing SPHN infrastructures, national data streams and multi-omics/multi-source disease- or technology-specific platforms, providing ed- ucational tools and connecting partners.

This mind shift also encompasses a real convergence between the initiatives and knowledge held in the research community, and the progression towards interoperability in the healthcare system as enforced by the Federal Swiss Law for the Shared Patient Record. Mutual representatives, such as in the semantic field, ensure that the standards adopted in the massive healthcare system are well-used for the research community. The understanding of the Swiss context – cultural and political – is also an important learning need, notably for the approaches based on distributed architecture. The many stakeholders that have participated in the elaboration of the regulatory aspects of the Swiss Shared Patient Record, law and ordinances, have resulted in a double approach of a centralized, unified layer of services, such as standards, identification and a distributed organization of data.

Analytical Platforms

– Genomics – Transcriptomics – Proteomics – Metabolomics – Exposomics – Multi-omics – Radiomics Clinical- and

research- related data

– Routine and special routine hospital data – Clinical research data

– Registry data – Cohort data – Images – Biospecimen

– Technical infrastructures – Semantic interoperability strategy – Data exchange formats – Quality standards

Interoperability

SPHN Mandate

– Distributed Federated Query System – BioMedIT Portal and tools – Meta-data catalogue(s) – Harmonized DTUA & MTA templates

Process innovation Public Trust

– General Consent – Ethical Framework – Transparency on data-sharing principles – Data protection – Data security Figure 2: The Five Pillars of Personalized Health.

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3. International Context (ICPerMed, EU-Commission)

1 www.icpermed.eu

2 www.icpermed.eu/media/content/Vision_Paper_2019.pdf

3 www.sbfi.admin.ch/dam/sbfi/en/dokumente/2019/02/horizon-europe.pdf.download.pdf/Fact-sheet_Horizon_en.pdf

Many countries in Europe and overseas have worked on similar initiatives. With notable exceptions, such as the Northern European countries and some Asian countries, most countries face similar problems to Switzerland with poorly interoperable and fragmented healthcare systems. While many international initiatives are often still on a conceptual level and have only recently started to address implementation issues, a clear advantage of the SPHN initiative lies in its combined bottom-up and top-down approach – the SPHN initiative involved researchers and hospitals from its start, and identified practical implementation problems as early as in the first intermediate milestone reports.

Switzerland is involved in the International Consortium for Personalized Medicine (ICPerMed¹) and maintains close contacts in order to ensure compliance to international standards and interlink at the European level.

ICPerMed is a consortium of more than 40 partner countries and regions in the field of personalized health research and infrastructures.

SPHN was involved in the elaboration of the ICPerMed Vision Paper² and the mapping of personalized infrastructure mapping efforts in the European research landscape. This will enhance the attractiveness for international research and industry partners, who will likely plan projects in international multi-centre network research consortia. In Section International Review and Gap Analysis from Intermediate Reports, we benchmark the current state of progress of SPHN with respect to the European Union Commission (EC) and ICPerMed Vision and Action Strategy.

The EC will foster personalized health in Horizon 2020 with a focus on implementation. The SPHN initiative will be instrumental to creating a better research environment in order to be competitive for Swiss researchers, in case the ‘Swiss-EU-framework agreement’³ is signed and Swiss researchers can continue to participate in European research consortia via EC-funded RI-projects.

However, currently, Switzerland has only an observer status in important EU-research projects such as the 1-Million Genome Project. Switzerland is currently not able to profit from grants provided by ERA-PerMed as no Swiss institution agreed to act as the funding agency.

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4. National Context (Partner Organizations)

In the last few years, Switzerland has made significant efforts to foster research and capacity building in personalized health or, more generally speaking, in patient-oriented research. However, many efforts were poorly coordinated. Uncoordinated enthusiasm, poor understanding of the needs of other stakeholders in the complex network, regulatory aspects, financial pressure on hospitals as well as specific stakeholder interests im- peded rapid progress of these efforts. During the last two years, the need for alignment and coordination of the efforts became imminent for all stakeholders. SPHN started bilateral talks with PHRT, SNSF, SBP, SCTO, swissethics, unimedsuisse, swissuniversities, eHealth-suisse, patient representatives and many others. Since the beginning of 2019, SPHN and PHRT leadership are meeting and coordinating regularly. The same is true for SBP and SCTO. Representatives of these organizations are invited as observers in each other’s Steering Boards.

These exchanges have shown their importance for align- ing visions, missions and strategic decisions, thus supporting a converging implementation. Shared concerns and challenges are identified and delegated to working groups led by one of the partner organizations, so that the outcome characteristics are usable for all the stakeholders. This process is efficient and also contributes to reinforcing mutual understanding and trust within a national coordination. The need for harmonization was also addressed by the SERI, which officially gave the mandate to the SAMS to coordinate between the stakeholders in November 2019. A subgroup of the SAMS is mandated to elaborate a ‘white paper’ describing the current landscape of patient- and citizen-oriented health research in Switzerland aiming to develop an overarching, health-related research infrastructure strategy for Switzerland for the next decade.

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5. Governance and Working Principles of the SPHN Initiative

4 www.sams.ch 5 www.sib.swiss

6 www.sphn.ch/network/projects/biomedit

7 www.sphn.ch/network/projects/data-coordination-center 8 www.ethrat.ch/en

9 www.swissuniversities.ch

10 www.bag.admin.ch/bag/en/home.html 11 www.snf.ch/en/Pages/default.aspx

The SPHN project organization (Figure 3) is character- ized by a national governance with several pillars covering the strategic aspects, the scientific and technical elements as well as a strong distributed bottom-up approach with organization and institutions on one side and drivers’ projects on the other side (1). Although the Swiss Academy of Medical Sciences (SAMS)⁴ is the overarching body of the SPHN initiative, the SIB Swiss Institute of Bioinformatics⁵ is responsible for the implementation of the BioMedIT project⁶ and the Data Coor dination Center⁷.

The National Steering Board (NSB)

The National Steering Board (NSB) is the highest body of SPHN and includes representatives from key institutions in Switzerland, notably University Hospitals, Uni- versities, the ETH Domain⁸, swissuniversities⁹, FOPH¹⁰, SNSF¹¹ and patient organizations. The NSB is an executive decision-making body: all SPHN strategic and financial decisions are made by this board. It works very closely with the Management Office (MO), which works on an operative level. In addition to the NSB, SPHN is composed of the following Expert Advisory Groups/Bodies.

GOVERNANCE

IMPLEMENTATION Swiss Confederation

SERI, FOPH

SAMS

Swiss Academy of Medical Sciences

National Steering Board (NSB)

International Advisory Board (IAB)

NSB Commitee

Ethical Legal Social Implications (ELSlag) National Advisory

Board (NAB)

Expert pool (including former SEB)

Task Forces

Management Office (MO)

BioMedIT Board Personalized Health

Informatics Group (PHI)

BioMedIT Network Data Coordination Center (DCC)

DCC Working Groups

SIB

Swiss Institute of Bioinformatics

mandates mandates

Figure 3: Organization of Governance and Implementation of SPHN (April 2020).

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ELSI Advisory Group (ELSIag)

The Ethical, Legal and Social Implications Advisory Group (ELSIag) addresses ethical, legal and social issues raised with the challenges of personalized health. It is composed of experts from various relevant fields such as bioethics, life sciences legalities and social sciences.

ELSIag is the most important place in SPHN, where patients can express their voice.

National Advisory Board (NAB) (formerly Scientific Expert Board)

The SPHN National Advisory Board (NAB) is an answer from the NSB to issues identified during the 2019 SPHN review process identified in the SPHN infrastructure landscape related to the need for a stronger national coordination at infrastructure level.

Being an advisory body, the NAB requires an executive mandate from the NSB to enforce its positions at the decision level. The NAB is composed of a Chairperson and a maximum of 3 – 5 members covering the following core domains of SPHN:

a) Patient, hospital, and citizen aspects;

b) ICT architecture and interoperability;

c) Analytical technologies (e.g., *omics platforms);

d) Health-data management, life cycle, interoperability, bioinformatics.

The NAB will assemble a group of scientific experts (Ex- pert Pool) with in-depth knowledge of the field of personalized health who are prepared to serve as members of the mandated SPHN working groups. As an advisory body, the NAB has the following duties:

– Infrastructure Roadmap: provide advice on health- research infrastructure development to the National Steering Board (NSB), the Data Coordination Center (DCC) and the BioMedIT Board, similar to the ELSI advisory group’s role for ethical aspects of the initiative;

– National SPHN Landscape: examine, review and address issues related to health-research infrastructures and their operations. Contribute to national efforts of harmonization of research infrastructures. Identify and report issues to the NSB, DCC and/or to the Bio- MedIT Board;

– Gap Analysis: identify gaps and areas requiring action in close collaboration with the SPHN Driver projects, infrastructure providers and working groups of the DCC;

– Mandated SPHN Working Groups: propose mandates for the solving of those issues by bespoke expert working groups. Monitor the establishment, progress and timely elaboration of the mandate deliveries of the working groups;

– International Benchmark: contextualize SPHN efforts within the international landscape. Evaluate new technologies, standards and processes resulting from SPHN projects or international efforts and make rec- ommendations regarding their endorsement and implementation in the SPHN ecosystem.

The International Advisory Board (IAB)

The International Advisory Board (IAB) is composed of international experts in the field of personalized health research. The Board provides advice, expertise and peer-review of funding proposals and of the initiative as a whole.

The Data Coordination Center (DCC) and its working groups

The mandate of the DCC is to promote the development and implementation of nationwide standards for data semantics and exchange mechanisms in order to meet the interoperability goals of the SPHN initiative (Section 6.2).

Working principles of the SPHN initiative

Rather than building a new centralized database, in par- allel with the federal landscape for the Swiss Shared Patient record, SPHN adopts a decentralized approach and aims at establishing interoperability of health-related information by building a dynamic scalable and sustainable network of data providers and data recipients based on common standards for formats, semantics, governance and exchange mechanisms.

SPHN supports the development and implementation of coordinated infrastructures by the means of a 5-axis strategy:

– Top-down funding: to develop compatible data management systems in the University Hospitals through Collaboration Agreements (Infrastructure Implemen- tation Projects);

– Bottom-up funding: selection of projects through competitive Calls for Proposals to lead the development of infrastructures and test it with concrete research projects (Infrastructure Development Projects and Driver Projects);

– Secure IT networks: establishment of a secure IT environment (BioMedIT) to support computational biomedical research and clinical bioinformatics without compromising data privacy;

– Mandated working groups: addressing specific gaps, guidelines or coordination tasks;

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– Sustainability: by convergence with the running operational processes of the various initiatives held in the Swiss healthcare system.

At the time of the writing of this report, CHF 18.1 M have been allocated to top-down funding projects, CHF 25.3 M to bottom-up projects, CHF 2.6 M to management and CHF 18 M to BioMedIT. The remaining amount of the CHF 68 M allocated by SERI will be used to address identified gaps (Sections 17, 18). Detailed information about the use of funds is available in the Appendix I.

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6. Capacity Building

The implementation of the SPHN research infrastructures is of primary interest for patients and healthcare providers as well as for the research community. It is the fundamental basis for the development of novel preven- tive, diagnostic and therapeutic strategies and measure- ment of the real-world, data-based value of healthcare in the changing healthcare system driven by the needs of precision medicine and personalized health (Section 20).

Following the finalization of the framing and governance of the initiative, a roadmap to achieving nationwide interoperability of health-related data (2) as well as an Ethical Framework for Responsible Data Process- ing were defined (3). Upon completion of this ground- work, SPHN initiated its activities in 2017, nevertheless still a considerable amount of work remained to be done (Sections 17, 18). Three years later, the progress made within the framework of the initiative is remarkable:

the milestones defined in the Implementation Report of November 2015 (4) have all been met on time and the calls for proposals have even taken place one year ahead of schedule. Numerous working groups and task forces have started their work, and underlying strategies, policies and documents have been developed and published.

6.1. Capacity building in university hospitals:

making clinical data shareable

As digital technologies are transforming the health sector, Swiss University Hospitals (UHs) invest a great amount of money in healthcare-compliant ICT infrastructures and processes. In order to streamline and harmonize at least parts of this development and to make health data from UHs sharable and effectively usable for research (i.e., findable, accessible and interoperable), Collaboration Agreements (Infrastructure Imple- mentation Projects) between SPHN and each UH were jointly drafted and signed, with the aim of developing systems that allow interoperable data exchange at all five UHs. To this end, each UH receives a contribution of CHF 3 M over a period of three years, provided that a set of milestones are reached. The development processes at all partner sites are synchronized, following a stepwise implementation approach with staggered milestones grouped in four categories:

– (A) Consent management and legal framework: the institutions commit to systematically implementing a process that allows patients to be informed about the possibility of sharing data for research and to making sustained efforts for reaching a significant proportion of inpa- tients with this information. Furthermore, the hospitals commit to clarifying and documenting their relation- ship with SPHN with respect to legal framework and procedures that relate to the sharing of consent information and patient data;

– (B) Definition of Data Interoperability Standards: the institutions commit to actively contributing to (i) the definition of pseudonymization/coding of data and exchange standards, (ii) the elaboration of a core data set and (iii) the definition of semantics standards enabling interoperability. Furthermore, the institutions commit to establishing and implementing a unique patient ID for research according to the HRA;

– (C) Development of Clinical Research Data Management Systems: the institutions commit to establishing an in ter nal IT infrastructure solution (e.g., clinical data management system/clinical data warehouse) for the inte gration of patient data that can be used for research purposes. Furthermore, they commit to implementing a technical solution regarding the establishment of a federated distributed query system for feasibility stud- ies, allowing researchers to assess if and where clinical data suitable for a specific research question exist at Swiss UHs. Mechanisms for requesting and providing access to distributed data and samples as well as un- structured data will also be developed;

– (D) Biobanking interoperability: the institutions commit to implementing mechanisms, allowing interoperability between the biobanking management systems and clinical research data management platforms. This should ensure that sample information can be delivered together with clinical data.

During the first contractual year, all five UHs have actively contributed to developing the legal framework and the procedures that relate to the sharing of consent information and the sharing of patient data. Data sharing is highly critical for the success of the SPHN initiative; access rights may be dependent on the type of data (Section 15).

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The implementation of the national harmonized General Consent approved by unimedsuisse¹² and swissethics¹³ was deemed as highly desirable.

The UHs are in the process of adopting the standards defined by the Clinical Semantic Interoperability Working Group, such as introducing semantic standards (LOINC, SNOMED-CT), implementing a formal descriptive lan- guage for exchanges (RDF) and supporting a strong cul- ture of semantic representation.

The development of the necessary internal clinical research data management systems is well on-track in most UHs. Based on milestone reports, detailed degrees of implementation will be available at the end of 2020.

Most of the UH have decided to build platforms that se- curely integrate, structure and manage health data for further use, including:

– Clinical data (routine data);

– Diagnostic images;

– Anatomic and molecular pathology reports; *omics data;

– Laboratory data;

– Biosample data;

– Patient outcomes.

The internal data management of the UHs is heterogeneous and dependent on the many existing used systems to run their operational activities. However, it generally ends up in a data lake which is made of a federated infrastructure with multimodal, multi-source heterogeneous data. Some of it is secondary centralized, such as what originated from various clinical sources of structured data; some of it remains strongly federated to avoid du- plication, such as massive volumes of images.

From this data lake, there are four scenarios of general usage: a) extraction of subsets that are then disconnect- ed from the system. These data can then be sent, for ex- ample, to third parties; b) synchronized extraction, for the data sets that remain synchronized with the source data; c) building of an access application programming interface (API) so that third parties’ commercial systems used within the hospitals can exploit the data, such as an analytical tool for the management of the hospital or for researchers such as REDcap; and finally some specific development that can directly access the data.

Many of the UHs follow the principle of establishing a data management and analysis platform not only for research but also for patient treatment and hospital oper-

12 www.unimedsuisse.ch/de 13 www.swissethics.ch/en

ations to best use synergies of a comprehensive analyt- ics platform (5). Concerning Biobanking interoperability, concrete steps are expected in the course of the year 2020.

6.2. SPHN Data Coordination Center (DCC):

striving for interoperability, facilitating findability and accessibility

The mandate of the DCC is to promote the development and implementation of nationwide standards for data semantics and exchange mechanisms in order to meet the interoperability goals of the SPHN initiative. For all its assigned tasks, the DCC collaborates closely with its expert working groups. Together:

– they are responsible for the development and technical implementation of a nationwide semantic strategy for clinical data;

– they help define and establish data standards for health- related data, such as routine hospital data, clinical research data, molecular and -omics data and healthy citizen data – in alignment with international efforts;

– they are responsible for the coordination of key milestones of the collaboration agreements between SPHN and the University Hospitals and support the technical implementation of the SPHN infrastructures;

– they coordinate the BioMedIT network and its associ- ated data-providing institutions and ensure technical interoperability among the technical nodes;

– they provide central services to the BioMedIT network in order to streamline processes, enhance security, leverage synergies and foster collaboration.

In addition, the DCC coordinates and aligns the SPHN Driver projects with the infrastructure goals of the initiative and supports cross-institutional collaboration. The DCC operates four working groups (WG), in which various experts of the respective fields and topics are repre- sented. The DCC supports these working groups and en- sures coordination and alignment between the groups:

– The Clinical Data Semantic Interoperability WG advises on clinical data interoperability standards, data formats and exchange formalisms to be adopted within SPHN (Section 7).

– The BioMedIT Interoperability WG develops and imple- ments interoperability between BioMedIT nodes to enable sharing of data and analysis workflows within SPHN.

Swiss Personalized Health Network